We offer a wide range of genotyping analysis using the following platforms:
- Sanger sequencing
- Fragment analysis
- Next generation sequencing (Ion Torrent and Illumina)
- Microarrays [see microarray services page]
- These technologies are suitable for genotyping any number of SNPs, CNV, Indels and structural variations from one up to several million and for a wide range of sample numbers (1-800,000+). Several of our technology platforms are suitable for use with low yield and/or fragmented materials material.
- SNPs are the most commonly occurring type of genetic variation among humans and occur within an individual’s DNA.
- Each SNP represents a difference in a single nucleotide (DNA building block)
- A human genome possesses roughly 4 to 5 million SNPs. SNPs generally occur once every 1,000 nucleotides.
- These variations in DNA, that occur between genes, act as biological markers to identify genes associated with different diseases.
- Copy number variation is a type of structural variation where one individual has a different number of copies of a specific gene compared to another individual.
- The number of variants/repeats can vary considerably between individuals' genomes. Some people may have two, three or even four times the copies in a specific chromosomal region.
- CNV includes insertions, deletions, and duplications of segments of DNA.
- Indels are a type of genetic variation in the bases of the genome.
- Indels are either insertions or deletions, depending on whether a specific nucleotide sequence is present or absent.
- Indels are widespread throughout the genome but are less common than SNPs.
- Structural variation is genomic variation in the structure of a chromosome.
- There are multiple types of detectable structural variations in the human genome, including; insertions, deletions, CNVs, duplications, inversions and translocations.